Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 6 4 2010 2019
CUI: C0040420
Disease: Tonometry
Tonometry 		phenotype Diagnostic Procedure 206 573 0.100 None 1.000 2 2 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2017 2018
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2010 2010
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.010 None 1.000 1 2019 2019
CUI: C3538951
Disease: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 		disease Disease or Syndrome 1 6 0.600 None 1.000 1 6 2009 2009
CUI: C3553785
Disease: WEILL-MARCHESANI SYNDROME 3
WEILL-MARCHESANI SYNDROME 3 		disease Disease or Syndrome 1 1 0.500 moderate 1.000 1 1 2012 2012
CUI: C4068743
Disease: Juvenile open angle
Juvenile open angle 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0241165
Disease: Thick skin
Thick skin 		phenotype Finding 40 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		phenotype Finding 13 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility 		phenotype Finding 84 3 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.020 None 1.000 2 2012 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.020 None 1.000 2 2012 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.010 None 1.000 1 2020 2020
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		group Cardiovascular Diseases Disease or Syndrome 537 45 0.010 None 1.000 1 2020 2020
CUI: C0264714
Disease: Acute heart failure
Acute heart failure 		disease Cardiovascular Diseases Disease or Syndrome 89 0.010 None 1.000 1 2012 2012
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2020 2020
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.100 None 0
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		phenotype Cardiovascular Diseases Pathologic Function 94 11 0.100 None 0